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| Nomenclature |
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Symbol:
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Plp1jp-msd
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Name:
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proteolipid protein (myelin) 1;
myelin synthesis deficiency
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MGI ID: |
MGI:1856066 |
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Synonyms: |
msd |
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Gene:
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Plp1
Location:
ChrX:136822671-136839733 bp, + strand
Genetic Position: ChrX,
59.1 cM, cytoband F1-F2
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Mutation
origin |
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Strain of Origin:
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B10.C/(47N)
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Mutation
description |
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Allele
Type: | |
Spontaneous |
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Mutation: | |
Single point mutation |
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Sequencing the entire coding region of this allele showed a a single C to T transition in exon 6. (J:42980)
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Inheritance: | |
Recessive |
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Carrying this Mutation: |
Mouse Strains: 0 strains available
Cell Lines: 0 lines available |
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Carrying any Plp1 Mutation:
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10 strains or lines available |
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Notes |
Plp1jp-msd, myelin synthesis deficiency, recessive. This mutation, which arose spontaneously in the B10.C(47N) strain, was shown to be an allele of Plp1jp by mating a fertile male Plp1jp/Y -- +/- chimera to a Plp1jp-msd/+ female to produce Plp1jp/Plp1jp-msd females with the typical jimpy phenotype (J:5322). Hemizygous males resemble Plp1jp/Y males in behavior, early death, and other aspects (J:5170). They have a deficiency of myelin in the central nervous system, but the myelination defect is less severe than in jimpy males (J:7157). Myelin of the peripheral nervous system is normal (J:6648, J:5688). A single nucleotide substitution in exon 6 causes the myelin synthesis deficiency phenotype (J:42980).
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| References |
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Original: |
J:5170
Meier H et al.,
"A neurological mutation (msd) of the mouse causing a deficiency of myelin synthesis."
Exp Brain Res 1970 Jun 25;10(5):512-25
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All: |
20 reference(s)
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Analysis Tools
